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Results: 1-12 |
Results: 12
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
Authors: Vacca, M Filippini, F Budillon, A Rossi, V Mercadante, G Manzati, E Gualandi, F Bigoni, S Trabanelli, C Pini, G Calzolari, E Ferlini, A Meloni, I Hayek, G Zappella, M Renieri, A D'Urso, M D'Esposito, M MacDonald, F Kerr, A Dhanjal, S Hulten, M
Citation: M. Vacca et al., Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females, J MOL MED-J, 78(11), 2001, pp. 648
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant
Authors: Guideri, F Acampa, M DiPerri, T Zappella, M Hayek, Y
Citation: F. Guideri et al., Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant, J CHILD NEU, 16(5), 2001, pp. 370-373
Additional case of Marden-Walker syndrome: Support for the autosomal-recessive inheritance and refinement of phenotype in a surviving patient
Authors: Orrico, A Galli, L Zappella, M Orsi, A Hayek, G
Citation: A. Orrico et al., Additional case of Marden-Walker syndrome: Support for the autosomal-recessive inheritance and refinement of phenotype in a surviving patient, J CHILD NEU, 16(2), 2001, pp. 150-153
Preserved speech variants of the Rett syndrome: Molecular and clinical analysis
Authors: Zappella, M Meloni, I Longo, I Hayek, G Renieri, A
Citation: M. Zappella et al., Preserved speech variants of the Rett syndrome: Molecular and clinical analysis, AM J MED G, 104(1), 2001, pp. 14-22
Possible case of Pitt-Hopkins syndrome in sibs
Authors: Orrico, A Galli, L Zappella, M Lam, CW Bonifacio, S Torricelli, F Hayek, G
Citation: A. Orrico et al., Possible case of Pitt-Hopkins syndrome in sibs, AM J MED G, 103(2), 2001, pp. 157-159
Preserved speech variant is allelic of classic Rett syndrome
Authors: De Bona, C Zappella, M Hayek, G Meloni, I Vitelli, F Bruttini, M Cusano, R Loffredo, P Longo, I Renieri, A
Citation: C. De Bona et al., Preserved speech variant is allelic of classic Rett syndrome, EUR J HUM G, 8(5), 2000, pp. 325-330
MECP2 mutation in male patients with non-specific X-linked mental retardation
Authors: Orrico, A Lam, CW Galli, L Dotti, MT Hayek, G Tong, SF Poon, PMK Zappella, M Federico, A Sorrentino, V
Citation: A. Orrico et al., MECP2 mutation in male patients with non-specific X-linked mental retardation, FEBS LETTER, 481(3), 2000, pp. 285-288
Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835
Authors: Cardaioli, E Dotti, MT Hayek, G Zappella, M Federico, A
Citation: E. Cardaioli et al., Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835, J SUBMIC CY, 31(2), 1999, pp. 301-304
Genome-wide scan for autism susceptibility genes (vol 8, pg 805, 1999)
Authors: Philippe, A Martinez, M Guilloud-Bataille, M Gillberg, C Rastam, M Sponheim, E Coleman, M Zappella, M Aschauer, H Van Maldergem, L Penet, C Feingold, J Brice, A Leboyer, M
Citation: A. Philippe et al., Genome-wide scan for autism susceptibility genes (vol 8, pg 805, 1999), HUM MOL GEN, 8(7), 1999, pp. 1353-1353
Genome-wide scan for autism susceptibility genes
Authors: Philippe, A Martinez, M Guilloud-Bataille, M Gillberg, C Rastam, M Sponheim, E Coleman, M Zappella, M Aschauer, H van Malldergerme, L Penet, C Feingold, J Brice, A Leboyer, M
Citation: A. Philippe et al., Genome-wide scan for autism susceptibility genes, HUM MOL GEN, 8(5), 1999, pp. 805-812
Ultrastructural study of enteric ganglia in three patients with Rett syndrome
Authors: Malandrini, A Hayek, G Villanova, M Aucone, AM Berti, G Vernillo, R Zappella, M Guazzi, GC
Citation: A. Malandrini et al., Ultrastructural study of enteric ganglia in three patients with Rett syndrome, BRAIN DEVEL, 20(8), 1998, pp. 586-588
The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases
Authors: Zappella, M Gillberg, C Ehlers, S
Citation: M. Zappella et al., The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases, J AUTISM D, 28(6), 1998, pp. 519-526
Risultati: 1-12 |